Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
Genet Med
; 20(11): 1328-1333, 2018 11.
Article
em En
| MEDLINE
| ID: mdl-29565419
ABSTRACT
PURPOSE:
Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are used to diagnose genetic and inherited disorders. However, few studies comparing the detection rates of WES and WGS in clinical settings have been performed.METHODS:
Variant call format files were generated and raw data analysis was performed in cases in which the final molecular results showed discrepancies. We classified the possible explanations for the discrepancies into three categories the time interval between the two tests, the technical limitations of WES, and the impact of the sequencing system type.RESULTS:
This cohort comprised 108 patients with negative array comparative genomic hybridization and negative or inconclusive WES results before WGS was performed. Ten (9%) patients had positive WGS results. However, after reanalysis the WGS hit rate decreased to 7% (7 cases). In four cases the variants were identified by WES but missed for different reasons. Only 3 cases (3%) were positive by WGS but completely unidentified by WES.CONCLUSION:
In this study, we showed that 30% of the positive cases identified by WGS could be identified by reanalyzing the WES raw data, and WGS achieved an only 7% higher detection rate. Therefore, until the cost of WGS approximates that of WES, reanalyzing WES raw data is recommended before performing WGS.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hibridização Genômica Comparativa
/
Sequenciamento Completo do Genoma
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Sequenciamento do Exoma
/
Doenças Genéticas Inatas
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Genet Med
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Arábia Saudita